ClinVar Miner

List of variants studied for tumoral calcinosis, hyperphosphatemic, familial, 2 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020638.3(FGF23):c.287T>C (p.Met96Thr) rs104894343
NM_020638.3(FGF23):c.386C>T (p.Ser129Phe) rs104894344

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